ClinVar Miner

Submissions for variant NC_000011.9:g.(?_47469557)_(47478800_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956401 SCV002246535 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-04-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. This variant results in the deletion of exon 1 and part of exon 2 (c.-8284_338del) of the RAPSN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAPSN are known to be pathogenic (PMID: 17686188).

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